Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Article Abstract:
People who have an arterial or gastrointestinal rupture may have Ehlers-Danlos syndrome type IV. This disease is caused by a defect in type III collagen production due to a mutation of the gene for type III procollagen (COL3A1). This leads to weakness in arteries and many organs, including the intestines and uterus. In a study of 220 patients with this syndrome, only 25% had a complication by the age of 20, but 80% had one by the age of 40. The average survival was 48 years and many deaths were caused by the rupture of an artery.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2000
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Albuminuria and vascular damage -- the vicious twins
Article Abstract:
All patients with diabetes should have a urinalysis frequently to check for albumin in the urine. Albumin is a protein whose presence in urine is a sign of kidney dysfunction. A study published in 2003 showed that good control of blood sugar could stop the excretion of albumin in urine. This may be a sign that blood sugar control may prevent diabetic kidney disease. Diabetic kidney disease may also be a marker for cardiovascular disease in general.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2003
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An exception to the rule
Article Abstract:
Researchers in the Netherlands have identified patients with Ehlers-Danlos syndrome who do not have mutations in the genes for collagen. Instead, they have a deficiency of tenascin-X, another connective tissue protein.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 2001
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